Incidental Mutation 'R5857:Ism2'
ID 454974
Institutional Source Beutler Lab
Gene Symbol Ism2
Ensembl Gene ENSMUSG00000050671
Gene Name isthmin 2
Synonyms LOC217738, Thsd3
MMRRC Submission 044069-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5857 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 87325412-87346479 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87326835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 368 (D368G)
Ref Sequence ENSEMBL: ENSMUSP00000117108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051601] [ENSMUST00000125733]
AlphaFold D3Z6A3
Predicted Effect probably damaging
Transcript: ENSMUST00000051601
AA Change: D324G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053451
Gene: ENSMUSG00000050671
AA Change: D324G

DomainStartEndE-ValueType
low complexity region 52 68 N/A INTRINSIC
TSP1 206 248 3.9e-7 SMART
AMOP 273 437 1.21e-75 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125733
AA Change: D368G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117108
Gene: ENSMUSG00000050671
AA Change: D368G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 96 112 N/A INTRINSIC
TSP1 250 292 3.9e-7 SMART
AMOP 317 481 1.21e-75 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145714
Meta Mutation Damage Score 0.4631 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 95% (55/58)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,203,369 (GRCm39) I266V probably benign Het
Anks6 C T 4: 47,039,736 (GRCm39) A492T possibly damaging Het
Ano1 A T 7: 144,190,840 (GRCm39) C415S probably benign Het
Anxa3 T A 5: 96,976,651 (GRCm39) probably null Het
Apob T C 12: 8,065,397 (GRCm39) V4089A probably benign Het
Arhgap23 C T 11: 97,342,405 (GRCm39) A229V possibly damaging Het
Atad5 T C 11: 80,022,155 (GRCm39) F1447L probably benign Het
Btbd8 T A 5: 107,609,398 (GRCm39) D212E probably damaging Het
Ccdc38 G T 10: 93,398,695 (GRCm39) A58S possibly damaging Het
Cep112 T C 11: 108,422,297 (GRCm39) probably benign Het
Col4a2 G A 8: 11,475,442 (GRCm39) G622D probably damaging Het
Crhbp T A 13: 95,578,740 (GRCm39) Q134L probably benign Het
Ctnnbl1 T C 2: 157,631,018 (GRCm39) S145P probably damaging Het
Cyp4f16 T A 17: 32,755,998 (GRCm39) L9Q probably damaging Het
Dchs2 T G 3: 83,177,620 (GRCm39) I891S possibly damaging Het
Disp3 A T 4: 148,333,640 (GRCm39) V1066D probably benign Het
Dlgap1 A G 17: 71,122,388 (GRCm39) probably benign Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Efl1 T A 7: 82,412,397 (GRCm39) C929S probably benign Het
Gatb T C 3: 85,483,239 (GRCm39) F82S probably damaging Het
Gk5 C A 9: 96,001,508 (GRCm39) S2* probably null Het
Gpr135 G A 12: 72,117,614 (GRCm39) A51V probably benign Het
Hoxa9 T A 6: 52,201,277 (GRCm39) N255Y probably damaging Het
Igkv8-18 T C 6: 70,332,904 (GRCm39) V15A probably benign Het
Krtap6-2 A T 16: 89,216,530 (GRCm39) S146T unknown Het
Lama1 T A 17: 68,114,838 (GRCm39) L2329H probably damaging Het
Llgl2 T A 11: 115,741,107 (GRCm39) I507N probably damaging Het
Lmna GCTGCCCACAC GC 3: 88,389,838 (GRCm39) probably benign Het
Lrfn3 A T 7: 30,058,863 (GRCm39) I454N possibly damaging Het
Mdn1 C A 4: 32,670,646 (GRCm39) T437K probably benign Het
Nat8f3 T C 6: 85,738,735 (GRCm39) Y9C probably damaging Het
Niban2 T A 2: 32,799,920 (GRCm39) N82K probably benign Het
Nlrp4d C A 7: 10,116,304 (GRCm39) G156V noncoding transcript Het
Npnt A T 3: 132,614,110 (GRCm39) C167S probably damaging Het
Nr3c2 A G 8: 77,635,496 (GRCm39) N199S possibly damaging Het
Or10x4 T G 1: 174,218,674 (GRCm39) I13R possibly damaging Het
Or8b12i C T 9: 20,082,535 (GRCm39) D111N probably damaging Het
Or8b37 T G 9: 37,959,049 (GRCm39) V177G probably benign Het
Pabpc1l T A 2: 163,886,175 (GRCm39) probably null Het
Pi4ka A G 16: 17,176,848 (GRCm39) I366T probably benign Het
Prl7a1 A T 13: 27,824,684 (GRCm39) D50E probably damaging Het
Rad52 T G 6: 119,887,968 (GRCm39) probably null Het
Rbm19 T A 5: 120,271,007 (GRCm39) L610Q probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Scube1 G T 15: 83,491,461 (GRCm39) probably benign Het
Sptbn4 G T 7: 27,118,138 (GRCm39) R314S possibly damaging Het
Togaram1 T A 12: 65,042,331 (GRCm39) I1130K possibly damaging Het
Tsc2 T C 17: 24,818,981 (GRCm39) E1352G probably damaging Het
Ube2d2a A G 18: 35,938,596 (GRCm39) T142A probably benign Het
Vps18 T C 2: 119,128,014 (GRCm39) Y946H probably damaging Het
Other mutations in Ism2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Aedes UTSW 12 87,326,969 (GRCm39) missense probably damaging 1.00
canal UTSW 12 87,326,835 (GRCm39) missense probably damaging 1.00
narrows UTSW 12 87,332,113 (GRCm39) missense probably damaging 1.00
panamin UTSW 12 87,333,658 (GRCm39) splice site probably null
Zone UTSW 12 87,346,437 (GRCm39) missense unknown
PIT4243001:Ism2 UTSW 12 87,333,832 (GRCm39) missense probably benign 0.00
R0544:Ism2 UTSW 12 87,332,113 (GRCm39) missense probably damaging 1.00
R0747:Ism2 UTSW 12 87,332,172 (GRCm39) splice site probably benign
R2258:Ism2 UTSW 12 87,326,848 (GRCm39) missense possibly damaging 0.92
R2859:Ism2 UTSW 12 87,346,437 (GRCm39) missense unknown
R3423:Ism2 UTSW 12 87,333,871 (GRCm39) missense probably benign 0.00
R3425:Ism2 UTSW 12 87,333,871 (GRCm39) missense probably benign 0.00
R4115:Ism2 UTSW 12 87,333,805 (GRCm39) missense probably benign 0.02
R4713:Ism2 UTSW 12 87,331,801 (GRCm39) splice site silent
R4769:Ism2 UTSW 12 87,346,355 (GRCm39) missense probably benign 0.06
R5313:Ism2 UTSW 12 87,326,536 (GRCm39) missense probably damaging 1.00
R5984:Ism2 UTSW 12 87,333,809 (GRCm39) missense possibly damaging 0.77
R6389:Ism2 UTSW 12 87,329,145 (GRCm39) missense possibly damaging 0.49
R6838:Ism2 UTSW 12 87,326,975 (GRCm39) missense probably benign 0.23
R7019:Ism2 UTSW 12 87,346,437 (GRCm39) missense unknown
R7358:Ism2 UTSW 12 87,326,814 (GRCm39) missense probably damaging 1.00
R7427:Ism2 UTSW 12 87,333,769 (GRCm39) missense possibly damaging 0.76
R7428:Ism2 UTSW 12 87,333,769 (GRCm39) missense possibly damaging 0.76
R7777:Ism2 UTSW 12 87,333,658 (GRCm39) splice site probably null
R7824:Ism2 UTSW 12 87,326,634 (GRCm39) missense probably damaging 1.00
R7973:Ism2 UTSW 12 87,333,769 (GRCm39) missense possibly damaging 0.76
R9006:Ism2 UTSW 12 87,326,969 (GRCm39) missense probably damaging 1.00
R9274:Ism2 UTSW 12 87,331,827 (GRCm39) nonsense probably null
R9306:Ism2 UTSW 12 87,333,826 (GRCm39) missense probably benign 0.45
Z1177:Ism2 UTSW 12 87,326,809 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCAGGTGAAAAGTCAGTGCTG -3'
(R):5'- TGATCAGCAGCACTCTCCTG -3'

Sequencing Primer
(F):5'- TCAGTGCTGACTAAGTCCGG -3'
(R):5'- GTGCCCCCTTACCCTCTG -3'
Posted On 2017-02-10